Developmental and Immune-mediated Mucocutaneous Conditions - part I Flashcards
(105 cards)
1
Q
categories of mucocutaneous conditions
A
- developmental
2. immune-mediated
2
Q
developmental mucocutaneous conditions
A
- ectodermal dysplasia
- white sponge nevus
- Peutz-Jeghers syndrome
- Hereditary hemorrhagic telangiectasia
3
Q
immune-mediated mucocutaneous conditions
A
- pemphigus vulgaris
- mucous membrane pemphigoid
- bullous pemphigoid
- erythema multiforme
- erythema migrans (geographic tongue)
- linchen planus
- lichenoid mucositis
- lupus erthematosus
- systemic sclerosis
- CREST syndrome
4
Q
ectodermal dysplasia is a group of inherited disorders in which what?
A
two or more ectodermally derived structures do not develop normally or fail to develop (hypoplasia or aplasia)
5
Q
T/F: there are several patterns of inheritance depending on the type of ectodermal dysplasia
A
true, ~200 different subtypes
6
Q
pts with ectodermal dysplasia have either hypoplasia or aplasia of what?
A
- skin
- hair
- nails
- teeth
- sweat glands
7
Q
what is one of the best known types of ectodermal dysplasia?
A
hypohidrotic ectodermal dysplasia
8
Q
clinical features of hypohidrotic ectodermal dysplasia
A
- heat intolerance
- fine, sparse blond or light color hair, eyebrows, eyelashes
- hypodontia
- oligodontia
- conical roots
- periocular hyperpigmentation
- protuberant lips (midface hypoplasia)
- prominent forehead
- varying degrees of xerostomia
- dystrophic or brittle nails
9
Q
why do pts with hypohidrotic ectodermal dysplasia experience heat intolerance??
A
because they lack sweat glands
10
Q
T/F: features of pts with hypohidrotic ectodermal dysplasia are more pronounced in females than males
A
false, more pronounced in males than females
11
Q
oligodontia
A
lack of development of 6 or more teeth
12
Q
what type of roots do pts with hypohidrotic ectodermal dysplasia have?
A
conical
13
Q
radiographic features of hypohidrotic ectodermal dysplasia
A
- hypodontia/oligodontia
- conical roots
- abnormally-shaped crowns (conical, tapered, pointed, smaller)
14
Q
tx of hypohidrotic ectodermal dysplasia
A
- genetic counseling pts and parents
2. tx plan may include fixed, removable, implants, ortho, etc. depends on individual case
15
Q
T/F: polygenetic oligodontia is another name for ectodermal dysplasia
A
FALSE
16
Q
dental findings of pts with polygenetic oligodontia can mimic what?
A
ectodermal dysplasia
17
Q
pts w/ polygenetic oligodontia vs. ectodermal dysplasia
A
- missing teeth but morphology of remaining teeth in pts with polygenetic oligodontia is normal
- normal hair, eyebrows, eyelashes
- normal fingernails
18
Q
what can help reduce the error of misdiagnosing pts with ectodermal dysplasia instead of polygenetic oligodontia?
A
genetic testing
19
Q
what causes white sponge nevus?
A
defect in the normal keratinization of the oral mucosa
20
Q
white sponge nevus is classified as what?
A
genodermatosis
21
Q
genodermatosis
A
genetically determined skin disorder
22
Q
T/F: white sponge nevus is common
A
false, rare
23
Q
white sponge nevus is autosomal what?
A
dominant with variable expressivity
24
Q
when does white sponge nevus appear?
A
at birth or early childhood, sometimes adolescence
25
clinical features of white sponge nevus
1. asymptomatic
| 2. thick, white appearance of buccal mucosa bilaterally
26
what other sites may be affected by white sponge nevus?
1. nasal
2. esophageal
3. laryngeal
4. anogenital mucosa
27
keratin from white sponge nevus is stained what color?
yellow
28
histo of white sponge nevus
parakeratosis with acanthosis
| 2. perinuclear eosinophilic condensation of cytoplasm is pathognomonic
29
parakeratosis with acanthosis
thickening of spinous layer
30
what is sometimes more diagnostic of white sponge nevus than scalpel biospy?
exfoliative cytology
31
tx of white sponge nevus
none unless cosmetic concern
32
what is reported to help in tx'ing white sponge nevus?
tetracycline rinses
33
T/F: pts should be reassured that white sponge nevus is a harmless condition
true
34
px of white sponge nevus
good
35
T/F: Peutz-Jeghers syndrome is rare but well-recognized
true
36
when is Peutz-Jeghers syndrome usually noted?
in childhood
37
Peutz-Jeghers syndrome is autosomal what?
dominant (~35% new mutations)
38
mutation of what gene allows uncontrolled cell growth?
STK11 gene
39
clinical features of Peutz-Jeghers syndrome
1. BENIGN hamartomatous polyps of gastrointestinal tract, esp jejunum and ileum
2. hyperpigmented macules of lips and oral mucosa
40
pts with Peutz-Jeghers syndrome experience bowel obstruction due to what?
intussusception
41
intussusception
"telescoping" of proximal segment into distal segment
42
when does the bowel problems of pts with Peutz-Jeghers syndrome become evident?
3rd decade (i.e. 20's)
43
pts with Peutz-Jeghers syndrome are at a high risk of developing cancer how many times greater than the control population?
18x
44
type of cancers more likely to develop in males with Peutz-Jeghers syndrome
1. GI tract
| 2. pancreas
45
type of cancers more likely to develop in females with Peutz-Jeghers syndrome
1. genital tract
2. ovary
3. breast
46
T/F: hyperpigmented macules found on pts with Peutz-Jeghers syndrome may fade with age
true
47
what other sites may hyperpigmented macules be found on pts with Peutz-Jeghers syndrome?
1. eyes
2. nostrils
3. anus
4. hands
5. feet
48
T/F: the gastrointestinal polyps found in pts with Peutz-Jeghers syndrome are precancerous
false, NOT precancerous
49
the gastrointestinal polyps found in pts with Peutz-Jeghers syndrome are considered what?
benign growths of intestinal glandular epithelium
50
tx of Peutz-Jeghers syndrome
1. genetic counseling for parents and pt
| 2. monitor for intussusception and for tumor development
51
intussusception in pts with Peutz-Jeghers syndrome may self-correct or may require surgery to prevent what?
ischemic necrosis
52
what happens if cancer develops in pts with Peutz-Jeghers syndrome?
tx appropriately
53
telangiectasia
small collection of dilated capillaries
54
is hereditary hemorrhagic telangiectasia (HHT) uncommon?
yes
55
hereditary hemorrhagic telangiectasia (HHT) is autosomal what?
dominant
56
what causes hereditary hemorrhagic telangiectasia (HHT)?
mutation of one of two genes which are responsible for blood vessel wall integrity
57
what be an initial clue to dx'ing hereditary hemorrhagic telangiectasia (HHT)?
frequent spontaneous epistaxis
58
clinical features of hemorrhagic telangiectasia (HHT)
1. numerous 1-2 mm red papules blanch with diascopy
| 2. telangiectasias on mucosa and skin, including hands and feet
59
other sites that hemorrhagic telangiectasia (HHT) may appear on?
1. oral
2. oropharyngeal
3. nasal
4. genitourinary
5. conjunctival mucosa
6. GI mucosa
60
arteriovenous fistulas in pts with hemorrhagic telangiectasia (HHT) may affect what?
1. lungs (30% of pts)
2. liver (30%)
3. brain (10-20%)
61
what is often the most dramatic and most easily identified on pts with hemorrhagic telangiectasia (HHT)?
oral lesions
62
location of oral lesions due to hemorrhagic telangiectasia (HHT)
1. vermilion zones
2. tongue
3. buccal mucosa
63
dx of hemorrhagic telangiectasia (HHT) requires 3 of what 4 features?
1. reccurent spontaneous epistaxis
2. telangiectasias of mucosa and skin
3. AV malformation involving the lung, liver or brain
4. family hx of HHT
64
histo features of hemorrhagic telangiectasia (HHT)
collection of thin-walled blood vessels in the superficial CT
65
tx of MILD hemorrhagic telangiectasia (HHT)
1. genetic counseling for parents and child
| 2. no tx
66
tx of MODERATE hemorrhagic telangiectasia (HHT)
1. genetic counseling for parents and child
| 2. selective cryotherapy or electrocautery bothersome lesions
67
tx of severe hemorrhagic telangiectasia (HHT)
1. genetic counseling for parents and child
| 2. septal dermoplasty to prevent epistaxis
68
px of hemorrhagic telangiectasia (HHT)
good
69
1-2% mortality is noted in pts with hemorrhagic telangiectasia (HHT) because of what?
complications related to blood loss
70
if a brain abscess develops in a pt with hemorrhagic telangiectasia (HHT), what percent mortality can be anticipated?
10% despite early dx and appropriate tx
71
etiology of pemphigus vulgaris (PV)
autoimmune
72
Pemphigus vulgaris (PV) is due to inappropriate production of what?
antibodies by the host directed against host tissue (autoantibodies)...
damage to host by host's own immune response
73
Pemphigus vulgaris (PV) autoantibodies destroy what?
desmosomes
74
role of desmosomes
bond epithelial cells together
75
what happens when antibodies inhibit desmosomes?
inhibits adherence so a split develops in the epithelium
76
T/F: Pemphigus vulgaris (PV) is relatively rare
true, ~5 cases per million dx'd each year in general population
77
what is the average age of pts dx'd with pemphigus vulgaris (PV)?
50 y.o.
78
what is the gender predilection for pemphigus vulgaris (PV)?
no gender predilection
79
oral lesions in pts with pemphigus vulgaris (PV)
1. superficial, ragged erosions and ulcerations
| 2. any mucosal surface
80
T/F: the oral lesions in pts with pemphigus vulgaris (PV) are the "first to show, last to go"
true, oral lesions are the initial manifestation of the disease and the most difficult to resolve with treatment
81
clinical features of pemphigus vulgaris (PV)
1. flaccid vesicles, bullae on skin
| 2. + Nikolsky sign
82
+ Nikolsky sign
inducing a bulla by applying firm, lateral pressure to normal appearing skin
83
what is rarely seen intact intraorally in pts with pemphigus vulgaris (PV)?
flaccid vesicles, bullae
84
what is important in managing pemphigus vulgaris (PV)?
plaque control
85
normal tissue adjacent to ulceration or erosion of pemphigus vulgaris (PV) should be sampled for what?
1. direct immunoflorescent (in Michel's solution)
| 2. light microscopic evaluation
86
histo of pemphigus vulgaris (PV)
1. INTRAEPITHELIAL clefting above the basal layer (i.e. within the epithelium)
2. acantholysis
87
acantholysis
breakdown of spinous layer; cells appear to fall apart
88
what remains attached to the CT seen microscopically in pemphigus vulgaris (PV)?
only basal cell layer of epithelium
89
immunopathology identifies what?
immune responses associated with diseases
90
immunofluorescence
technique that uses fluorescent-labeled antibodies to detect specific targets
91
T/F: immunopathology is used to help identify several immune-mediated conditions
true
92
direct immunofluorescence (DIF) is used to detect what?
autoantibodies bound to pt's tissues
93
indirect immunofluorescence (IIF) is used to detect what?
antibodies circulating in the blood
94
immuno features of pemphigus vulgaris (PV)
1. both DIF and IIF studies will be positive in pemphigus vulgaris
2. autoantibodies bind desmosomal components (desmoglein 1 & 3)
95
DIF-immunoreactants are what in pemphigus vulgaris (PV)?
in intercellular areas b/w the surface epithelial cells "chicken wire" with SUPRAbasilar cleft
96
tx of pemphigus vulgaris (PV)
systemic corticosteroids - often azathiprine or other steroid-sparing agents
97
why does topical corticosteroids have little effect in tx'ing pemphigus vulgaris (PV)?
PV is a systemic disease
98
what percent of pemphigus vulgaris (PV) cases will resolve on their own after 10 years?
~30%
99
T/F: pemphigus vulgaris (PV) is usually fatal if not tx'd
true
100
why may pemphigus vulgaris (PV) be fatal if not tx'd?
1. severe infection
2. loss of fluids/electrolytes
3. malnutrition due to mouth pain
101
prior to corticosteroid therapy, what mortality rates of pemphigus vulgaris (PV) cases were what percent?
60-90%
102
what may lead to mortality of pts with pemphigus vulgaris (PV)?
complications of long-term steroid
103
what is the morality rate of pts with pemphigus vulgaris (PV) today?
5-10% mortality
104
mortality today in pts with pemphigus vulgaris (PV) is usually due to what?
complications of therapy (side effect of steroids, immune-suppression)
105
what drug is used to tx pemphigus vulgaris (PV) suppresses bone marrow and is a carcinogen?
azathioprine
